Canonical Allele Identifier: CA2847528772

Gene: SMARCD2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837434C>G , CM000679.2:g.63837434C>G	GRCh38
NC_000017.10:g.61914794C>G , CM000679.1:g.61914794C>G	GRCh37
NC_000017.9:g.59268526C>G	NCBI36
NG_053004.1:g.10558G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.296G>C
ENST00000698015.1:n.35+7G>C
ENST00000698016.1:c.260+7G>C	ENSP00000513502.1:n.260+7G>C
ENST00000698021.1:c.64+7G>C
ENST00000698022.1:c.218+7G>C	ENSP00000513504.1:n.218+7G>C
ENST00000698027.1:c.260+7G>C	ENSP00000513505.1:n.260+7G>C
ENST00000448276.7:c.401+7G>C MANE Select	ENSP00000392617.2:n.401+7G>C
ENST00000225742.13:c.176+7G>C	ENSP00000225742.9:n.176+7G>C
ENST00000323347.14:c.257+7G>C	ENSP00000318451.10:n.257+7G>C
ENST00000448276.6:c.401+7G>C	ENSP00000392617.2:n.401+7G>C
ENST00000577686.1:n.53-197G>C
ENST00000580054.1:c.185+7G>C	ENSP00000463793.1:n.185+7G>C
ENST00000584400.5:c.217-197G>C	ENSP00000464503.1:n.217-197G>C
ENST00000613943.4:c.290+7G>C	ENSP00000483605.1:n.290+7G>C
NM_001098426.1:c.401+7G>C	NP_001091896.1:n.401+7G>C
XM_005257604.2:c.176+7G>C	XP_005257661.2:n.176+7G>C
NM_001330439.1:c.176+7G>C	NP_001317368.1:n.176+7G>C
NM_001330440.1:c.257+7G>C	NP_001317369.1:n.257+7G>C
NM_001098426.2:c.401+7G>C MANE Select	NP_001091896.1:n.401+7G>C
NM_001330440.2:c.257+7G>C	NP_001317369.1:n.257+7G>C